Varaico: Literature-Extracted Genetic Variants

SCN5A

2,996 papers

RefSeq Summary

The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible f...

Pfam Domains

Ion_transaa 130–423UCSCIon transport protein

Na_trans_cytoplaa 507–667UCSCCytoplasmic domain of voltage-gated Na+ ion channel

Ion_transaa 716–949UCSCIon transport protein

Na_trans_assocaa 953–1200UCSCSodium ion transport-associated

Ion_transaa 1204–1481UCSCIon transport protein

Ion_transaa 1527–1783UCSCIon transport protein

Gene Aliases

HGNC Name

sodium voltage-gated channel alpha subunit 5

HGNC Previous Symbol

CMD1E

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000335.5

p.A2S

c.4G>T

Surrounding Variants

3 papers

NM_000335.5

p.A2insFs

c.4_5insAA

7 papers

NM_000335.5

p.A2T

c.4G>A

4 papers

NM_000335.5

p.M1I

c.3G>T

4 papers

NM_000335.5

p.M1I

c.3G>C

6 papers

NM_000335.5

p.M1I

c.3G>A

1 paper

NM_000335.5

p.M1Fs

c.3delinsTAFs

4 papers

NM_000335.5

p.M1delFs

c.2delA

1 paper

NM_000335.5

p.A2V

c.5C>T

1 paper

NM_000335.5

p.A2G

c.5C>G

2 papers

NM_000335.5

p.A2insFs

c.4dupG

1 paper

NM_000335.5

p.A2insFs

c.5_6ins4

1 paper

NM_000335.5

p.A2insFs

c.5_6insGC